[Fetal Escobar syndrome--a case report]

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Fetal Abnormalities

Background:

• Multiple Pterygium Syndrome (MPS), particularly the Escobar variant, is a rare autosomal recessive disorder.
• MPS is associated with significant fetal abnormalities including pterygia, arthrogryposis, and intrauterine growth restriction (IUGR).

Observation:

• Increased fetal nuchal translucency was detected in the first trimester.
• Ultrasonography in the second trimester revealed additional symptoms consistent with MPS.
• Genetic amniocentesis initially showed no chromosomal abnormalities, leading to a postmortem diagnosis of Escobar syndrome.

Findings:

• The case highlights the diagnostic challenges of Escobar syndrome, often identified postmortem.
• Subsequent parental and maternal genetic examinations were crucial for accurate diagnosis.
• These genetic analyses enabled effective early prenatal diagnostics in a subsequent pregnancy.

Implications:

• Successful prenatal diagnosis in a subsequent pregnancy resulted in the birth of a healthy infant.
• This underscores the importance of genetic testing for rare fetal conditions.
• Early prenatal diagnosis can significantly improve outcomes for families affected by Escobar syndrome.